Associated Papers
[Genetic analysis of primary ciliary dyskinesia caused by DNAH5 splicing site mutations].
Zhang MT et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2025
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
A highly heterogeneous mutational pattern in POEMS syndrome.
Chen J et al.
Leukemia, 2021
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PB
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
Li S et al.
Scientific Reports, 2018
TEX15: A DNA repair gene associated with prostate cancer risk in Han Chinese.
Lin X et al.
The Prostate, 2017
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Xie H et al.
Scientific Reports, 2017
28333167 (PubMed )
Supplement: srep44271-s1.pdf
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